{"id":"W4320710462","doi":"10.1002/ajmg.a.63147","title":"Portrait of autosomal recessive diseases in the <scp>French‐Canadian</scp> founder population of <scp>Saguenay‐Lac‐Saint‐Jean</scp>","year":2023,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean","funders":"","keywords":"Founder effect; Consanguinity; Population; SAINT; Genetics; Demography; Medicine; Biology; Haplotype; History; Genotype; Gene; Sociology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0009103375,0.0004368352,0.00157456,0.0003935665,0.00006406826,0.00003338548,0.001246353,0.0003820387,0.00001586169],"category_scores_gemma":[0.002690946,0.0003115402,0.0008731245,0.0006459722,0.0005838274,0.000005611753,0.0001591522,0.0005045283,0.000005362261],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006586313,"about_ca_system_score_gemma":0.002527962,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003235036,"about_ca_topic_score_gemma":0.002550658,"domain_scores_codex":[0.9955809,0.000566878,0.001763853,0.0004022233,0.001137212,0.0005489807],"domain_scores_gemma":[0.9956931,0.0005636496,0.002216795,0.0005240376,0.0002734424,0.0007289311],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001775317,0.001072359,0.01373914,0.005849738,0.002930953,0.001263254,0.0007518274,0.0005329153,0.00005934347,0.0002184646,0.03382172,0.9397425],"study_design_scores_gemma":[0.0006356473,0.001308866,0.01310904,0.004155681,0.001405082,0.0003784323,0.0009867587,0.00004776466,0.0000146497,0.0002742767,0.9775192,0.0001646393],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1229202,0.8755222,0.00005474695,0.0001553201,0.0004840308,0.0004211529,0.0003329024,0.000004598814,0.0001048776],"genre_scores_gemma":[0.0657035,0.9325905,0.0001231008,0.0002129132,0.0006759785,0.00002460309,0.000469211,0.00007582243,0.0001243946],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9436975,"threshold_uncertainty_score":0.9999337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02415561095252353,"score_gpt":0.3117927343456799,"score_spread":0.2876371233931564,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}